LOC130057679[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057927, LOC130057928 +1764 more	Copy number gain	See cases	GPathogenic
Select item 153193	GRCh38/hg38 15q23-25.1(chr15:70025300-78705993)x1	ACSBG1, ADPGK +487 more	Copy number loss	See cases	GPathogenic
Select item 154952	GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	LOC116268473, LOC116268474 +1244 more	Copy number gain	See cases	GPathogenic
Select item 147979	GRCh38/hg38 15q24.2-25.1(chr15:76006154-79982417)x1	LOC130057730, LOC132090332 +175 more	Copy number loss	See cases	GPathogenic
Select item 57247	GRCh38/hg38 15q24.3-25.1(chr15:77640317-78459174)x3	ACSBG1, CIB2 +46 more	Copy number gain	See cases	GUncertain significance
Select item 3324689	NM_144572.2(TBC1D2B):c.60G>C (p.Gln20His)	LOC130057679, TBC1D2B (Q20H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2352098	NM_144572.2(TBC1D2B):c.32GCG[7] (p.Gly15_Glu16insGlyGly)	LOC130057679, TBC1D2B	Microsatellite (inframe_insertion)	Inborn genetic diseases	GLikely benign
Select item 768719	NM_144572.2(TBC1D2B):c.36C>G (p.Gly12=)	LOC130057679, TBC1D2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3041747	NM_144572.2(TBC1D2B):c.23C>G (p.Ala8Gly)	LOC130057679, TBC1D2B (A8G)	Single nucleotide variant (missense variant)	TBC1D2B-related disorder	GBenign
Select item 2334956	NM_144572.2(TBC1D2B):c.22G>T (p.Ala8Ser)	LOC130057679, TBC1D2B (A8S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3174589	NM_144572.2(TBC1D2B):c.10G>C (p.Ala4Pro)	LOC130057679, TBC1D2B (A4P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance